ari derowe, m.d. pediatric otolaryngology dana children’s hospital tel-aviv medical center
DESCRIPTION
PEDIATRIC CRANIO-FACIAL ANOMALIES. Ari DeRowe, M.D. Pediatric Otolaryngology Dana Children’s Hospital Tel-Aviv Medical Center. Malformation Deformation Disruption. Sequence Syndrome Association. Definitions. Malformation. - PowerPoint PPT PresentationTRANSCRIPT
Ari DeRowe, M.D.Ari DeRowe, M.D.
Pediatric Pediatric OtolaryngologyOtolaryngology
Dana Children’s Dana Children’s HospitalHospital
Tel-Aviv Medical Tel-Aviv Medical CenterCenter
PEDIATRIC CRANIO-FACIAL ANOMALIES
DefinitionsDefinitions
MalformationMalformation DeformationDeformation DisruptionDisruption
SequenceSequence SyndromeSyndrome AssociationAssociation
MalformationMalformation
““a morphologic defect of an organ, a morphologic defect of an organ, part of an organ, or larger area of part of an organ, or larger area of the body resulting from an the body resulting from an intrinsically abnormal developmental intrinsically abnormal developmental process”process”
e.g., cleft lipe.g., cleft lip
DeformationDeformation
““abnormal form or position of a body abnormal form or position of a body part caused by nondisruptive part caused by nondisruptive mechanical forces”mechanical forces”
Usually late in fetal developmentUsually late in fetal development Mechanical, malformational or Mechanical, malformational or
functionalfunctional e.g., Potter e.g., Potter
DisruptionDisruption
““defect of an organ, part of an defect of an organ, part of an organ, or a larger area of the body organ, or a larger area of the body due to interference with a normal due to interference with a normal process”process”
Sporadic and rareSporadic and rare e.g., anmiotic bands leading to e.g., anmiotic bands leading to
amputationsamputations
SequenceSequence
““multiple defects that occur as a multiple defects that occur as a result of a single presumed result of a single presumed structural anomaly”structural anomaly”
e.g., Pierre Robin sequencee.g., Pierre Robin sequence
Pierre Robin SequencePierre Robin Sequence
SyndromeSyndrome
““pattern of multiple anomalies pattern of multiple anomalies believed to be pathogenetically believed to be pathogenetically related and not representing a related and not representing a sequence”sequence”
Pathogenesis less understood Pathogenesis less understood e.g., Treacher-Collins syndromee.g., Treacher-Collins syndrome
Sequence versus Sequence versus SyndromeSyndrome
Apert SyndromeApert Syndrome
Apert SyndromeApert Syndrome15.5 per million of live births
Bicoronal synostosis: 100%
Cleft palate: 30%
Deafness: 30%
Complex syndactyly: 100%
Acne vulgaris
Downward slanting lateral canthii
Upper lid ptosis
Other CNS abnormalitites (Hydrocephalus 10%)
Multiple suture Craniostenosis
CROUZON’S SYNDROMECROUZON’S SYNDROME
Incidence 1:25,000Incidence 1:25,000 33% sporadic33% sporadic Midface deficiencyMidface deficiency Shallow orbits Shallow orbits
(pseudo-proptosis)(pseudo-proptosis) Normal IQ and Normal IQ and
limbslimbs Hearing problemsHearing problems Multisutural.Multisutural.
AssociationAssociation
““nonrandom occurrence of a group nonrandom occurrence of a group of anomalies in multiple individuals, of anomalies in multiple individuals, not known to be a sequence or not known to be a sequence or syndrome”syndrome”
Alert clinicians to look for related Alert clinicians to look for related problemsproblems
e.g., CHARGE and VATERe.g., CHARGE and VATER
Choanal AtresiaChoanal Atresia
Management IssuesManagement Issues
Team approachTeam approach Otolaryngology issuesOtolaryngology issues
upper airway obstructionupper airway obstruction hearing Losshearing Loss speech Disordersspeech Disorders
Upper Airway Upper Airway ObstructionObstruction
Neonatal nasal obstructionNeonatal nasal obstruction Neonatal oropharyngeal obstructionNeonatal oropharyngeal obstruction Obstructive apneaObstructive apnea Airway maintenance during surgeryAirway maintenance during surgery
Neonatal Nasal Airway Neonatal Nasal Airway ObstructionObstruction
Obligate nose breathers until >3 Obligate nose breathers until >3 monthsmonths
Problems when mouths closed or Problems when mouths closed or feedingfeeding
e.g.., bilateral choanal/midface e.g.., bilateral choanal/midface hypoplasiahypoplasia
treatment with oral airwaytreatment with oral airway
Nasopharyngeal Teratoma in Nasopharyngeal Teratoma in newbornnewborn
Neonatal Oropharyngeal Neonatal Oropharyngeal Airway ObstructionAirway Obstruction
Posterior displacement of tonguePosterior displacement of tongue Neonates with retro/micrognathiaNeonates with retro/micrognathia TreatmentTreatment
nursing in prone positionnursing in prone position nasopharyngeal airwaynasopharyngeal airway tracheotomy if life threateningtracheotomy if life threatening
Usually relieved by 6 months of ageUsually relieved by 6 months of age
Child with Obstructive Child with Obstructive ApneaApnea
Variety of causesVariety of causes maxillary hypoplasia, narrow maxillary hypoplasia, narrow
nasopharynxnasopharynx retrognathia, micrognathiaretrognathia, micrognathia overcorrected VPI overcorrected VPI
Operative proceduresOperative procedures Adenotonsillectomy, laser reduction of Adenotonsillectomy, laser reduction of
tongue base, UPPP, mandible tongue base, UPPP, mandible advancement, laser reduction of advancement, laser reduction of supraglottis, tracheotomysupraglottis, tracheotomy
Pediatric OSAS: Pediatric OSAS: continuumcontinuum
Primary SnoringPrimary Snoring UARS = Upper Airway Resistance UARS = Upper Airway Resistance
SyndromeSyndrome OSAOSA
Sleep Disordered Breathing Sleep Disordered Breathing = SDB= SDB
Progressive OSA in infantProgressive OSA in infant
Obstructive Sleep Obstructive Sleep Apnea SyndromeApnea Syndrome
OSAS is a syndrome of disordered OSAS is a syndrome of disordered breathing characterized by a breathing characterized by a combination of combination of intermittent partialintermittent partial and/or and/or completecomplete airway obstruction airway obstruction occurring during sleep, leading to occurring during sleep, leading to hypoventilation (hypoxemia and hypoventilation (hypoxemia and hypercapnia) and sleep disturbance.hypercapnia) and sleep disturbance.
Breathing while awake appears to be Breathing while awake appears to be entirely normal, in most instancesentirely normal, in most instances
prevalence 2%prevalence 2% RDI > 5 ? Duration >3 months?RDI > 5 ? Duration >3 months?
EtiologyEtiology adenotonsillar hypertrophyadenotonsillar hypertrophy craniofacial syndromescraniofacial syndromes
Crouzon, Treacher-Collins, Pierre RobinCrouzon, Treacher-Collins, Pierre Robin maxillary hypoplasia, septal deviation, maxillary hypoplasia, septal deviation,
micro or retrognathia, choanal stenosis or micro or retrognathia, choanal stenosis or atresia, macroglossiaatresia, macroglossia
Down syndromeDown syndrome MPSMPS IatrogenicIatrogenic
Pediatric OSAS - Pediatric OSAS - complicationscomplications
decreased REM = poor quality sleepdecreased REM = poor quality sleep psychological outcomepsychological outcome
behavioral disturbancesbehavioral disturbances hyperactivityhyperactivity aggressionaggression depressiondepression hypersomnolencehypersomnolence learning difficultieslearning difficulties
CVSCVS growth and developmentgrowth and development enuresisenuresis
Intubation Method for Intubation Method for Mandibular HypoplasiaMandibular Hypoplasia
Handler and KeonHandler and Keon e.g.., Treacher-e.g.., Treacher-
Collins, Pierre Robin, Collins, Pierre Robin, and Goldenhar and Goldenhar patientspatients
Problems include:Problems include: Small mandibleSmall mandible GlossoptosisGlossoptosis TrismusTrismus Prominent maxillaProminent maxilla Cleft palateCleft palate
Method of IntubationMethod of Intubation
Method of Intubation Method of Intubation (cont.)(cont.)
Method of Intubation Method of Intubation (cont.)(cont.)
Hearing LossHearing Loss
CongenitalCongenital Usually conductiveUsually conductive Hemifacial microsomia, microtiaHemifacial microsomia, microtia Bilateral microtia – surgery when possibleBilateral microtia – surgery when possible Normal hearing ear – CROS hearing aidsNormal hearing ear – CROS hearing aids
AcquiredAcquired Usually ETD – require ventilation tubesUsually ETD – require ventilation tubes Tympanoplasty delayed until adolescenceTympanoplasty delayed until adolescence
Speech DisordersSpeech Disorders HypernasalityHypernasality
velopharyngeal insufficiencyvelopharyngeal insufficiency often corrected with speech therapy aloneoften corrected with speech therapy alone may need palatopharyngoplasty if persistsmay need palatopharyngoplasty if persists
HyponasalityHyponasality nasal obstructionnasal obstruction improves with correction of obstructionimproves with correction of obstruction
HoarsenessHoarseness 20% of children with VPI20% of children with VPI vocal cord nodules from compensatory maneuversvocal cord nodules from compensatory maneuvers may develop after endotracheal intubationmay develop after endotracheal intubation
Common SyndromesCommon Syndromes
Down syndromeDown syndrome Velocardiofacial Velocardiofacial
syndromesyndrome Pierre Robin Pierre Robin
sequencesequence Goldenhar Goldenhar
syndromesyndrome
Treacher-Collins Treacher-Collins syndrome syndrome
Apert and Crouzon Apert and Crouzon syndromessyndromes
CHARGE CHARGE associationassociation
Down Syndrome Down Syndrome (Trisomy 21)(Trisomy 21)
Most commonMost common 1 in 700 births1 in 700 births Maternal age >35 Maternal age >35
carries increased carries increased riskrisk
1866, described by 1866, described by John Landon DownJohn Landon Down
Airway and Airway and hearing problemshearing problems
Airway ConcernsAirway Concerns
Midface hypoplasiaMidface hypoplasia OSA in up to 50%OSA in up to 50% Adenotonsillectomy often insufficientAdenotonsillectomy often insufficient Subglottic narrowing, smaller Subglottic narrowing, smaller
tracheatrachea Atlantoaxial instability in up to 20%Atlantoaxial instability in up to 20%
Hearing ConcernsHearing Concerns Congenital and Acquired, overall high Congenital and Acquired, overall high
incidenceincidence Conductive hearing lossConductive hearing loss
more commonmore common small pinna, stenotic EAC, eustachian tube small pinna, stenotic EAC, eustachian tube
dysfunction, ossicular fixationdysfunction, ossicular fixation Sensorineural hearing lossSensorineural hearing loss
less commonless common ossification of basal spiral tract, temporal bone ossification of basal spiral tract, temporal bone
anomaliesanomalies Management: ventilation tubes, frequent Management: ventilation tubes, frequent
exams, and hearing aids as necessaryexams, and hearing aids as necessary
Velocardiofacial Velocardiofacial Syndrome (VCFS)Syndrome (VCFS)
Recognized in 1978Recognized in 1978 Autosomal dominantAutosomal dominant Deletion of Deletion of
chromosome 22chromosome 22 Congenital heart Congenital heart
disease, hypernasal disease, hypernasal speech, cleft palate, speech, cleft palate, learning disabilities, learning disabilities, & unusual facies& unusual facies
VCFS (cont.)VCFS (cont.)
Basicranial Basicranial angulationangulation
Causes long face, Causes long face, puffy eyelids, puffy eyelids, retruded mandible, retruded mandible, increased increased pharyngeal depthpharyngeal depth
VCFS (cont.)VCFS (cont.)
Vascular anomalies Vascular anomalies are very commonare very common
Anomalies of head Anomalies of head and neck vessels and neck vessels most common most common (almost 100%)(almost 100%)
Caution in Caution in planning VPI planning VPI surgerysurgery
Speech Concerns in Speech Concerns in VCFSVCFS
Palatal anomalies common (75%)Palatal anomalies common (75%) 80% occult, 20% overt80% occult, 20% overt 44% with submucous cleft and bifid 44% with submucous cleft and bifid
uvulauvula Increased pharyngeal depth Increased pharyngeal depth Severe hypernasalitySevere hypernasality Treatment: Speech therapy and Treatment: Speech therapy and
SurgerySurgery
Airway concerns in VCFSAirway concerns in VCFS
Common in the infant – multiple sourcesCommon in the infant – multiple sources Due to generalized hypotonia (especially Due to generalized hypotonia (especially
pharyngeal), retrognathia, laryngeal pharyngeal), retrognathia, laryngeal webs, and reactive airway diseasewebs, and reactive airway disease
Endoscopic assessment criticalEndoscopic assessment critical Tracheotomy rareTracheotomy rare Retrognathia, cleft palate, and UAO Retrognathia, cleft palate, and UAO
(Pierre Robin?)(Pierre Robin?)
Hearing Concerns in Hearing Concerns in VCFSVCFS
Minor ear Minor ear anomaliesanomalies
COME commonCOME common CHL in 75% (MEE)CHL in 75% (MEE) Due to ETD Due to ETD
(palate) & frequent (palate) & frequent immunopathyimmunopathy
Sensorineural HL Sensorineural HL in 15% - unilateral, in 15% - unilateral, mildmild
Pierre Robin SequencePierre Robin Sequence
Triad of palatal Triad of palatal cleft, cleft, micrognathia, and micrognathia, and glossoptosisglossoptosis
1923, credit to 1923, credit to French French stomatologiststomatologist
Incidence 1 in Incidence 1 in 85008500
PRS (cont.)PRS (cont.) Mandibular Mandibular
deficiencydeficiency Etiology can be Etiology can be
multiple (positional, multiple (positional, genetic, neurologic, genetic, neurologic, connective tissue connective tissue d/o)d/o)
Nonsyndromic Nonsyndromic (80%) or syndromic (80%) or syndromic (20%)(20%)
Airway Concerns (PRS)Airway Concerns (PRS)
Sher described 4 mechanisms for Sher described 4 mechanisms for cause of obstructioncause of obstruction
Management with nasopharyngeal Management with nasopharyngeal airway initially (up to 8 weeks)airway initially (up to 8 weeks)
Tracheotomy may be necessary if Tracheotomy may be necessary if other treatments failother treatments fail
Mechanisms of Mechanisms of Obstruction (PRS)Obstruction (PRS)
Hearing Concerns (PRS)Hearing Concerns (PRS)
Chronic otitis media with effusion Chronic otitis media with effusion commoncommon
Palatal abnormality (ETD)Palatal abnormality (ETD) Require multiple tympanostomy Require multiple tympanostomy
tubestubes
Treacher-Collins Treacher-Collins SyndromeSyndrome
Autosomal dominantAutosomal dominant 1 in 25,000 –50,000 1 in 25,000 –50,000
birthsbirths Bilateral Bilateral
abnormalities of 1abnormalities of 1stst and 2and 2ndnd branchial branchial archesarches
Hypoplasia of maxilla, Hypoplasia of maxilla, zygoma, and mandiblezygoma, and mandible
Downward slanting Downward slanting eyes with colobomas eyes with colobomas of lower eyelid and of lower eyelid and absence of eyelashesabsence of eyelashes
Airway Concerns (T-C)Airway Concerns (T-C)
Respiration easily compromised, Respiration easily compromised, especially if choanal atresia/stenosis especially if choanal atresia/stenosis presentpresent
Airway management extremely Airway management extremely difficultdifficult
OSA may develop – responds to OSA may develop – responds to tonsillectomy and/or mandibular tonsillectomy and/or mandibular advanceadvance
Hearing Concerns (T-C)Hearing Concerns (T-C)
Auricles are malformed or absentAuricles are malformed or absent Varying degrees of middle ear Varying degrees of middle ear
hypoplasia and ossicular hypoplasia and ossicular malformationmalformation
Bilateral CHL – 50 to 70dB Bilateral CHL – 50 to 70dB Surgery difficult at best, chance for Surgery difficult at best, chance for
success is poorsuccess is poor Hearing aids usually necessaryHearing aids usually necessary
Apert and Crouzon Apert and Crouzon SyndromesSyndromes
1906, Apert described a 1906, Apert described a child with child with acrocephalosyndactylyacrocephalosyndactyly
1912, Crouzon described 1912, Crouzon described mother & daughter with mother & daughter with craniofacial dysostosiscraniofacial dysostosis
Both are autosomal Both are autosomal dominantdominant
Incidence is ~ 15 to 16 Incidence is ~ 15 to 16 per 1,000,000 birthsper 1,000,000 births
Neonatal iatrogenic nasal obstruction
International Journal of Pediatric Otorhinolaryngology (2004) : DeRowe etal
Apert and CrouzonApert and Crouzon
CraniosynostosisCraniosynostosis HypertelorismHypertelorism ExopthalmosExopthalmos Maxillary Maxillary
hypoplasiahypoplasia
Airway concerns (A&C)Airway concerns (A&C)
Compromise of nasopharyngeal and Compromise of nasopharyngeal and oropharyngeal airway by cranial oropharyngeal airway by cranial synostosissynostosis
Serious risk for respiratory distress, OSA, Serious risk for respiratory distress, OSA, cor pulmonale and sudden deathcor pulmonale and sudden death
Treatment: ET intubation, tracheotomy Treatment: ET intubation, tracheotomy Sleep study for OSA – may need Sleep study for OSA – may need
tracheotomy if severetracheotomy if severe Cervical spine anomalies can occurCervical spine anomalies can occur
Hearing Concerns (A&C)Hearing Concerns (A&C)
Conductive hearing lossConductive hearing loss Due to ETD from decreased NP Due to ETD from decreased NP
spacespace Tympanostomy tubes often Tympanostomy tubes often
necessarynecessary
Goldenhar syndrome Goldenhar syndrome (Oculoauriculovertebral)(Oculoauriculovertebral)
Unilateral Unilateral craniofacial craniofacial malformationmalformation
11stst and 2 and 2ndnd arches arches 1 in 5600 births1 in 5600 births Sporadic (most)Sporadic (most) Vascular anomaly Vascular anomaly
during fetal life?during fetal life?
Goldenhar Syndrome Goldenhar Syndrome (cont.)(cont.)
Facial asymmetry, unilateral ear Facial asymmetry, unilateral ear deformities, and vertebral deformities, and vertebral malformationsmalformations
Upper eyelid colobomasUpper eyelid colobomas Auricular malformations, EAC Auricular malformations, EAC
stenosis, ossicular abnormalitiesstenosis, ossicular abnormalities Facial weakness in 10 to 20%Facial weakness in 10 to 20%
Hearing Concerns (GS)Hearing Concerns (GS)
Greater than 50% of patientsGreater than 50% of patients Usually conductive (ossicular Usually conductive (ossicular
malformation or absence, EAC malformation or absence, EAC atresia)atresia)
Sensorineural occasionallySensorineural occasionally
C.H.A.R.G.E.C.H.A.R.G.E.
ColobomaColoboma Heart defect (tetralogy of Heart defect (tetralogy of
Fallot,ASD,VSD)Fallot,ASD,VSD) Atretic choanaeAtretic choanae Retarded growth Retarded growth Genitourinary anomaliesGenitourinary anomalies Ear malformationsEar malformations
*must have 4 out of 6 categories*must have 4 out of 6 categories
Airway ConcernsAirway Concerns Choanal Atresia – Choanal Atresia –
bilateral more bilateral more common in CHARGE common in CHARGE associationassociation
Bilateral – immediate Bilateral – immediate airway support with airway support with oral airway, McGovern oral airway, McGovern nipple, or intubationnipple, or intubation
If definitive surgery If definitive surgery delayed b/c of other delayed b/c of other anomalies, anomalies, tracheotomy tracheotomy necessarynecessary
Hearing ConcernsHearing Concerns
External ear anomalies (vary widely)External ear anomalies (vary widely) Middle ear anomalies (absence of stapes, Middle ear anomalies (absence of stapes,
abnormal incus, absence of oval window)abnormal incus, absence of oval window) Inner ear anomalies (Mondini dysplasia of Inner ear anomalies (Mondini dysplasia of
pars inferior, absence of pars superior, pars inferior, absence of pars superior, and short cochlea)and short cochlea)
Deafness is of mixed type (“wedge” audio)Deafness is of mixed type (“wedge” audio)
Mid Facial DistractionMid Facial Distraction